Rofail L.M.,National Health Medical Research Council |
Rofail L.M.,University of Sydney |
Rofail L.M.,Concord General Repatriation Hospital |
Wong K.K.H.,National Health Medical Research Council |
And 8 more authors.
Sleep | Year: 2010
Rationale: Given the high prevalence of obstructive sleep apnea (OSA) and the demand on polysomnography (PSG), there is a need for low cost accurate simple diagnostic modalities that can be easily deployed in primary care to improve access to diagnosis. Study Objectives: The aim was to examine the utility of single-channel nasal airflow monitoring using a pressure transducer at home in patients with suspected OSA. Design: Cross-sectional study Setting: Laboratory and home Participants: The study was conducted in two populations. Consecutive patients with suspected OSA were recruited from the sleep disorders clinic at a tertiary referral center and from 6 local metropolitan primary care centers. Interventions: All patients answered questionnaires and had laboratory PSG. Nasal airflow was monitored for 3 consecutive nights at home in random order either before or after PSG. Results: A total of 193 patients participated (105 sleep clinic patients and 88 from primary care). The mean bias PSG apnea hypopnea index (AHI) minus nasal flow respiratory disturbance index (NF RDI) was -4.9 events per hour with limits of agreement (2 SD) of 27.8. NF RDI monitored over 3 nights had high accuracy for diagnosing both severe OSA (defined as PSG AHI > 30 events per hour) with area under the receiver operating characteristic curve (AUC) 0.92 (95% confidence interval (CI) 0.88-0.96) and any OSA (PSG AHI >5), AUC 0.87 (95% CI 0.80-0.94). Conclusions: Single-channel nasal airflow can be implemented as an accurate diagnostic tool for OSA at home in both primary care and sleep clinic populations.
Kozan P.,Concord General Repatriation Hospital |
Chalasani S.,Concord General Repatriation Hospital |
Handelsman D.J.,Concord General Repatriation Hospital |
Handelsman D.J.,Sydney ANZAC Research Institute |
And 4 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2014
Context: Secondary erythrocytosis due to androgens is most commonly seen in the context of T replacement therapy in men. Leydig cell ovarian tumors are a rare cause of virilization, erythrocytosis, and thromboembolism. Patient Case: We describe the case of a 55-year-old postmenopausal woman who presented with a 3-year history of frontal balding and virilization and a 5-year history of obstructive sleep apnea. She had not experienced significant alteration in libido or mood. Menstruation had ceased at age 46. She had a history of recurrent pulmonary embolism and unexplained secondary erythrocytosis. Past hematological investigations had not revealed any evidence of malignancy or thrombophilia, and the JAK2 mutation was negative. The serum erythropoietin was mildly elevated at 20.3 mIU/mL (normal range, 3.6-16.6 mIU/mL). The serum T was initially reported (by immunoassays) as >1600 ng/dL (>55 nmol/L). Similarly, serum androstenedione (>1000 ng/dL; >35 nmol/L), estradiol (169 pg/mL; 621 pmol/L), and dehydroepiandrosterone sulfate (348μg/dL; 9.4μmol/L) were all elevated for a postmenopausal woman. Repeat analysis of the serum T by mass spectrometry showed an extremely elevated level of 4270 ng/dL (148 nmol/L).Computedtomography scan revealed a 5.0-cm right ovarian tumor. After surgical removal of an ovarian Leydig cell tumor, her virilization, erythrocytosis, and sleep apnea resolved. Conclusion: Hyperandrogenism in women should be considered as a rare but important cause of erythrocytosis, recurrent thromboembolism, and sleep apnea. The diagnosis of hyperandrogenism requires a careful history and physical examination because in postmenopausal women, menstrual disturbance does not occur and cosmetic measures may mask overt clinical features. (J Clin Endocrinol Metab 99: 12-17, 2014). © Copyright 2014 by The Endocrine Society.
Zheng A.S.Y.,Wollongong Hospital |
Zheng A.S.Y.,Concord General Repatriation Hospital |
Morris G.,Southern IML Pathology |
Moses R.G.,Clinical Trial and Research Unit
Australian and New Zealand Journal of Obstetrics and Gynaecology | Year: 2016
Past studies have shown that the prevalence of gestational diabetes mellitus (GDM) has been underestimated, and this can have major implications for healthcare planning. With the changes in diagnostic criteria for GDM, we wanted to assess the accuracy of the diagnosis in a private hospital setting. Using data from the hospital's obstetric database, medical records and a private pathology provider, we established the true prevalence of GDM and compared it with the NSW Perinatal Data Collection. The recorded prevalence of 6.8% was well below the real value of 15.0%. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists
Khoma O.,Concord General Repatriation Hospital |
Suppiah A.,Concord General Repatriation Hospital |
Martin D.,Concord General Repatriation Hospital
International Journal of Surgery Case Reports | Year: 2016
50-year-old female presented with abdominal pain 9 days post sleeve gastrectomy and was found to have acute renal infarction caused by paradoxical emboli through patent foramen ovale (PFO) as a cause of the renal infarction. Renal infarctions caused by paradoxical embolism are rare and have not been previously reported following surgery, bariatric surgery in particular. This report describes presentation, work up and management of a patient with renal infarct following bariatric surgery. © 2016 The Author(s)
Raymond J.,Concord General Repatriation Hospital |
Cook D.,University of Sydney
Australasian Medical Journal | Year: 2015
Minocycline is widely used as a first-line agent for papulopustular acne, and has previously been reported as causing stains on teeth that are still forming. This article reports a case of staining to only the crowns of unerupted third molars in a girl prescribed minocycline at age 16 for papulopustular acne. We review the literature in the area of minocycline teeth staining, consider the role of minocycline as a first-line agent for papulopustular acne, and outline strategies on the prevention of minocycline teeth staining. The case highlights current deficiencies in the disclosure information for minocycline, and provides information that is relevant to practitioners who may prescribe this drug. © 2015, Australasian Medical Journal Pty Ltd. All rights reserved.
Dissanayake R.K.,Concord General Repatriation Hospital |
Bertouch J.V.,Prince of Wales Hospital
International Journal of Rheumatic Diseases | Year: 2010
Aim: To identify the psychological interventions for which there is consistent, high quality evidence of efficacy in the treatment of patients with rheumatoid arthritis (RA). Method: A computer-aided search and manual screening of identified papers was conducted. Randomised controlled trials published in English in peer-reviewed journals, assessing the use of psychological interventions in adult patients with RA were included. Results: Thirty-four papers published between 1981 and 2009 encompassing 31 studies with 2021 patients were included. There is consistent supportive evidence for the efficacy of disclosure therapy (four studies) and cognitive behavioural therapy (CBT) with maintenance therapy (five studies). There is supportive evidence for improvement with CBT of greater than 6 weeks duration (six studies) in the short-term but conflicting evidence for its long-term efficacy. There is some evidence for improvement with biofeedback-based interventions (two studies). There is conflicting evidence for the benefits of counselling (three studies), psychotherapy (two studies) mindfulness and meditation (two studies), and CBT of less than 6 weeks duration (six studies). There is limited evidence regarding relaxation therapy (two studies). Methodological limitations of the reviewed literature included failure of allocation concealment, blinding and conduction of intention-to-treat analysis, as well as the heterogeneity and choice of outcome measures. Conclusions: This review shows consistent supportive evidence for the use of disclosure therapy, and CBT with maintenance therapy as adjunct therapies in patients with RA. It also highlights methodological limitations in the current literature and the need for future research in this area. © 2010 The Authors. International Journal of Rheumatic Diseases. © 2010 Asia Pacific League of Associations for Rheumatology and Blackwell Publishing Asia Pty Ltd.
Rofail L.M.,National Hlth Med Res Cncl Center For Clinical Research Excellence In Respiratory And Sleep Medicine |
Rofail L.M.,University of Sydney |
Rofail L.M.,Concord General Repatriation Hospital |
Wong K.K.H.,National Hlth Med Res Cncl Center For Clinical Research Excellence In Respiratory And Sleep Medicine |
And 8 more authors.
Sleep | Year: 2010
Rationale: The most common single channel devices used for obstructive sleep apnea (OSA) screening are nasal airflow and oximetry. No studies have directly compared their role in diagnosing OSA at home. Study Objectives: To prospectively compare the diagnostic utility of home-based nasal airflow and oximetry to attended polysomnography (PSG) and to assess the diagnostic value of adding oximetry to nasal airflow for OSA. Design: Cross-sectional study Setting: Laboratory and home Participants: Sleep clinic patients with suspected OSA. Interventions: All patients had laboratory PSG and 2 sets of 3 consecutive nights on each device; nasal airflow (Flow Wizard, DiagnoseIT, Australia) and oximetry (Radical Set, Masimo, USA) at home in random order. Results: Ninety-eight of the 105 patients enrolled completed home monitoring. The accuracy of nasal airflow respiratory disturbance index (NF RDI) was not different from oximetry (ODI 3%) for diagnosing OSA (area under the ROC curve (AUC) difference, 0.04; 95% CI of difference -0.05 to 0.12; P = 0.43) over 3 nights of at-home recording. The accuracy of NF RDI was higher after 3 nights compared to one night (AUC difference, 0.05; 95% CI of difference, 0.01 to 0.08; P = 0.04). Addition of oximetry to nasal airflow did not increase the accuracy for predicting OSA compared to nasal airflow alone (P > 0.1). Conclusions: Nasal flow and oximetry have equivalent accuracy for diagnosing OSA in the home setting. Choice of device for home screening of sleep apnea may depend on logistical and service delivery issues.
PubMed | University of Sydney and Concord General Repatriation Hospital
Type: Journal Article | Journal: The Australasian medical journal | Year: 2015
Minocycline is widely used as a first-line agent for papulopustular acne, and has previously been reported as causing stains on teeth that are still forming. This article reports a case of staining to only the crowns of unerupted third molars in a girl prescribed minocycline at age 16 for papulopustular acne. We review the literature in the area of minocycline teeth staining, consider the role of minocycline as a first-line agent for papulopustular acne, and outline strategies on the prevention of minocycline teeth staining. The case highlights current deficiencies in the disclosure information for minocycline, and provides information that is relevant to practitioners who may prescribe this drug.
PubMed | University of New South Wales, Pathwest Laboratory Medicine, Murdoch Childrens Research Institute, Concord General Repatriation Hospital and 3 more.
Type: Journal Article | Journal: JAMA neurology | Year: 2015
To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated.To translate whole-exome sequencing (WES) to clinical practice for the genetic diagnosis of a large cohort of patients with limb-girdle muscular dystrophy (LGMD) for whom protein-based analyses and targeted Sanger sequencing failed to identify the genetic cause of their disorder.We performed WES on 60 families with LGMDs (100 exomes). Data analysis was performed between January 6 and December 19, 2014, using the xBrowse bioinformatics interface (Broad Institute). Patients with LGMD were ascertained retrospectively through the Institute for Neuroscience and Muscle Research Biospecimen Bank between 2006 and 2014. Enrolled patients had been extensively investigated via protein studies and candidate gene sequencing and remained undiagnosed. Patients presented with more than 2 years of muscle weakness and with dystrophic or myopathic changes present in muscle biopsy specimens.The diagnostic rate of LGMD in Australia and the relative frequencies of the different LGMD subtypes. Our central goals were to improve the genetic diagnosis of LGMD, investigate whether the WES platform provides adequate coverage of known LGMD-related genes, and identify new LGMD-related genes.With WES, we identified likely pathogenic mutations in known myopathy genes for 27 of 60 families. Twelve families had mutations in known LGMD-related genes. However, 15 families had variants in disease-related genes not typically associated with LGMD, highlighting the clinical overlap between LGMD and other myopathies. Common causes of phenotypic overlap were due to mutations in congenital muscular dystrophy-related genes (4 families) and collagen myopathy-related genes (4 families). Less common myopathies included metabolic myopathy (2 families), congenital myasthenic syndrome (DOK7), congenital myopathy (ACTA1), tubular aggregate myopathy (STIM1), myofibrillar myopathy (FLNC), and mutation of CHD7, usually associated with the CHARGE syndrome. Inclusion of family members increased the diagnostic efficacy of WES, with a diagnostic rate of 60% for trios (an affected proband with both parents) vs 40% for single probands. A follow-up screening of patients whose conditions were undiagnosed on a targeted neuromuscular disease-related gene panel did not improve our diagnostic yield.With WES, we achieved a diagnostic success rate of 45.0% in our difficult-to-diagnose cohort of patients with LGMD. We expand the clinical phenotypes associated with known myopathy genes, and we stress the importance of accurate clinical examination and histopathological results for interpretation of WES, with many diagnoses requiring follow-up review and ancillary investigations of biopsy specimens or serum samples.
PubMed | In.Sight, Westmead Childrens Hospital, Douglass Hanly Moir Pathology and Concord General Repatriation Hospital
Type: Journal Article | Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus | Year: 2016
We report the histopathological findings in 3 patients where injections of botulinum toxin were used prior to strabismus surgery. In all cases we found evidence of permanent extraocular muscle atrophy and fibrosis.